E19G (p.Glu19Gly) variant of CTNNA1 (Catenin alpha-1)
E19G (p.Glu19Gly) in CTNNA1 (Catenin alpha-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
E19G (p.Glu19Gly) variant details
- p.Glu19Gly
- rs1580978110
- ClinGen CA361477142
- ClinVar RCV000817808
- Ensembl rs1580978110
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.55
- AlphaMissense 0.95
- MetaLR 0.28
- MetaSVM -0.50
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available